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Gene | FLT3 |
Variant | Y842H |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | FLT3 Y842H lies within the protein kinase domain of the Flt3 protein (UniProt.org). Y842H results in increased phosphorylation of Flt3, activation of Stat5 and Mapk, and transformation of cultured cells (PMID: 14604974), and is associated with acquired resistance in the context of FLT3-ITD (PMID: 25847190, PMID: 22504184, PMID: 29187377). |
Associated Drug Resistance | Y |
Category Variants Paths |
FLT3 mutant FLT3 act mut FLT3 Y842H FLT3 mutant FLT3 exon20 FLT3 Y842H |
Transcript | NM_004119.3 |
gDNA | chr13:g.28018484A>G |
cDNA | c.2524T>C |
Protein | p.Y842H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004119.2 | chr13:g.28018484A>G | c.2524T>C | p.Y842H | RefSeq | GRCh38/hg38 |
NM_004119 | chr13:g.28018484A>G | c.2524T>C | p.Y842H | RefSeq | GRCh38/hg38 |
NM_004119.3 | chr13:g.28018484A>G | c.2524T>C | p.Y842H | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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